Seizures 101: Understanding Seizures in Angelman Syndrome
Seizures in Angelman Syndrome can be classified as either focal or generalized. Focal seizures arise from one part of the brain and can cause symptoms such as shaking, visual hallucinations, or a nauseous feeling. Generalized seizures affect the whole brain at once and can include tonic-clonic, atonic, myoclonic, absence, tonic, and spasm seizures. Seizures are common in Angelman Syndrome, with about 80% of individuals experiencing them. The EEG patterns in Angelman Syndrome can show abnormalities, but it can be difficult to differentiate between seizure activity and normal patterns. Treatment for seizures in Angelman Syndrome typically involves medications such as benzodiazepines, and in some cases, diet therapy may be considered. It is important to work closely with healthcare professionals to determine the best treatment approach for each individual.
In this talk, we will discuss seizures in Angelman Syndrome. Seizures are a common symptom of Angelman Syndrome and can have a significant impact on individuals and their families. We will explore the different types of seizures, their causes, and potential treatment options.
Understanding Seizures in Angelman Syndrome
The Genetic Basis of Angelman Syndrome
Angelman Syndrome is caused by a mutation or deletion of the UBE3A gene on chromosome 15. This gene is responsible for producing a protein that is essential for normal brain development and function. When this gene is affected, it can lead to the symptoms of Angelman Syndrome, including seizures.
The Role of GABA in Seizures
GABA is a chemical in the brain that helps regulate the balance between excitatory and inhibitory signals. It plays a crucial role in preventing seizures by slowing down brain activity. In Angelman Syndrome, the GABA receptor genes may also be affected, leading to an imbalance in brain activity and an increased risk of seizures.
Common Seizure Types in Angelman Syndrome
Seizures in Angelman Syndrome can be classified into two main categories: focal seizures and generalized seizures. Focal seizures originate from a specific part of the brain, while generalized seizures involve the entire brain. The most common seizure types in Angelman Syndrome include tonic-clonic seizures (grand mal seizures), absence seizures (petit mal seizures), atonic seizures (drop seizures), myoclonic seizures, and tonic seizures.
Epilepsy in Angelman Syndrome
Epilepsy, which is defined as two or more unprovoked seizures, is a common neurological problem in individuals with Angelman Syndrome. It occurs in approximately 90% of individuals with deletions, 75% of individuals with UBE3A mutations, and 50% of individuals with imprinting center defects. Epilepsy can have a significant impact on an individual’s development, behavior, and overall quality of life.
Diagnosis and Treatment
Diagnosing seizures in Angelman Syndrome can be challenging, as they may not always be captured on EEG or other diagnostic tests. However, if an individual is experiencing symptoms consistent with seizures, it is important to consult with a healthcare professional for further evaluation and diagnosis. Treatment options for seizures in Angelman Syndrome may include antiepileptic medications, dietary therapies (such as the ketogenic diet), and other supportive measures.
Managing Seizures and Improving Quality of Life
Managing seizures in Angelman Syndrome requires a multidisciplinary approach, involving neurology, genetics, psychiatry, neuropsychology, sleep medicine, and gastrointestinal specialists. It is important to work closely with healthcare professionals to develop an individualized treatment plan that addresses the specific needs of the individual. Additionally, maintaining good overall health, managing stress, and promoting a healthy lifestyle can help improve seizure control and overall quality of life.
Seizures are a common symptom of Angelman Syndrome and can have a significant impact on individuals and their families. Understanding the different types of seizures, their causes, and potential treatment options is essential for managing seizures and improving quality of life. By working closely with healthcare professionals and implementing a comprehensive treatment plan, individuals with Angelman Syndrome can better manage their seizures and lead fulfilling lives.
- Title: Seizures 101
- Author(s): Ron Thibert
- Author(s)’ affiliation: Massachusetts General Hospital
- Publication date: 2015-08-18
- Collection: 2015 ASF Family Conference